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PUBMED FOR HANDHELDS

Journal Abstract Search


172 related items for PubMed ID: 15880705

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  • 4. Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation.
    Goyal M, Gupta A, Choudhary A, Bhandari A.
    Indian J Pediatr; 2019 Feb; 86(2):183-185. PubMed ID: 30209734
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  • 7. Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains.
    Mäkitie O, Susic M, Cole WG.
    J Orthop Res; 2010 Nov; 28(11):1497-501. PubMed ID: 20872587
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  • 10. Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells.
    Wilson R, Freddi S, Bateman JF.
    J Biol Chem; 2002 Apr 12; 277(15):12516-24. PubMed ID: 11805116
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  • 13. Deletions in the COL10A1 gene are not associated with skeletal changes in dogs.
    Young AE, Ryun JR, Bannasch DL.
    Mamm Genome; 2006 Jul 12; 17(7):761-8. PubMed ID: 16845471
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  • 15. Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response.
    Wilson R, Freddi S, Chan D, Cheah KS, Bateman JF.
    J Biol Chem; 2005 Apr 22; 280(16):15544-52. PubMed ID: 15695517
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  • 17. Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management.
    Al Kaissi A, Ghachem MB, Nabil NM, Kenis V, Melchenko E, Morenko E, Grill F, Ganger R, Kircher SG.
    Orthop Surg; 2018 Aug 22; 10(3):241-246. PubMed ID: 30027601
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  • 18. Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.
    Sawai H, Ida A, Nakata Y, Koyama K.
    J Hum Genet; 1998 Aug 22; 43(4):259-61. PubMed ID: 9852679
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  • 20. Interaction of collagen alpha1(X) containing engineered NC1 mutations with normal alpha1(X) in vitro. Implications for the molecular basis of schmid metaphyseal chondrodysplasia.
    Chan D, Freddi S, Weng YM, Bateman JF.
    J Biol Chem; 1999 May 07; 274(19):13091-7. PubMed ID: 10224061
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